Results 41 to 50 of about 6,173 (169)

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Muscle biopsy in Pompe disease [PDF]

Arquivos de Neuro-Psiquiatria, 2013
Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.Methods:A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases).Results:Vacuoles with or without glycogen storage were ...
Werneck LC, Lorenzoni PJ, Kay CS, Scola RH   +3 more
openaire   +6 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Maud Janssens, Sanne J. van der Veen, Laura van Dussen, André B. P. van Kuilenburg, Marion M. M. G. Brands, Mirjam Langeveld   +5 more
wiley   +1 more source

Hearing in adults with Pompe disease [PDF]

Journal of Inherited Metabolic Disease, 2011
AbstractHearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α‐glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and
van der Beek, Nadine A. M. E., Verschuure, Hans, Reuser, Arnold J. J., van der Ploeg, Ans T., van Doorn, Pieter A., Poublon, René M. L.   +5 more
openaire   +3 more sources

Systematic Reanalysis of Whole‐Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 8, August 2026.
ABSTRACT Background Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder, and despite advances in next‐generation sequencing, a substantial proportion of clinically suspected pediatric cases remain without a molecular diagnosis.
Tilbe Hakçıl Öz, Tuğba Şişmanlar Eyüboğlu, Ayşe Tana Aslan, Nilgün Kula, Gülsüm Kayhan   +4 more
wiley   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis

Children
Background: Pompe disease is a rare metabolic myopathy caused by the lack or deficiency of the lysosomal acid alpha-glucosidase, resulting in skeletal muscle weakness and cardiomyopathy.
Mu-Yun Lin, Szu-Han Chen, Jen-Ting Lee, Po-Cheng Hsu   +3 more
doaj   +1 more source

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

Case Reports in Pediatrics, 2019
Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to ...
Allison M. Jay, Premchand Anne, David Stockton   +2 more
doaj   +1 more source